Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values NPHP4 261734 broad.mit.edu 37 1 5965822 5965822 + Missense_Mutation SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr1:5965822C>T uc001alq.1 - 14 1899 c.1633G>A c.(1633-1635)GGT>AGT p.G545S NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_5'Flank NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin 545 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) TGGGAGATACCGGCCTCCAAC 0.582 PUM1 9698 broad.mit.edu 37 1 31479941 31479941 + Missense_Mutation SNP C G G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr1:31479941C>G uc001bsi.1 - 4 554 c.441G>C c.(439-441)TTG>TTC p.L147F PUM1_uc001bsg.1_5'Flank|PUM1_uc001bsh.1_Missense_Mutation_p.L147F|PUM1_uc001bsj.1_Missense_Mutation_p.L147F|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Missense_Mutation_p.L183F|PUM1_uc010ogb.1_Intron NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 147 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TTTTACCTGGCAAGAGCTGCT 0.393 IQCC 55721 broad.mit.edu 37 1 32671870 32671870 + Missense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr1:32671870G>A uc001bum.2 + 2 205 c.158G>A c.(157-159)CGC>CAC p.R53H IQCC_uc009vua.2_Missense_Mutation_p.R133H|IQCC_uc010ogz.1_5'UTR|DCDC2B_uc001bun.2_5'Flank NM_018134 NP_060604 Q4KMZ1 IQCC_HUMAN IQ motif containing C isoform 2 53 ovary(4) 4 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) ACCGAGGGCCGCATTCCCAGG 0.612 POLR3C 10623 broad.mit.edu 37 1 145608488 145608488 + Missense_Mutation SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr1:145608488C>T uc001eoh.2 - 3 480 c.319G>A c.(319-321)GTT>ATT p.V107I NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Missense_Mutation_p.V120I|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Missense_Mutation_p.V107I NM_006468 NP_006459 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide 107 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) AGCTCCTCAACAATCAGCTCT 0.493 C1orf129 80133 broad.mit.edu 37 1 170961347 170961347 + Silent SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr1:170961347C>T uc001ghg.2 + 12 1201 c.1071C>T c.(1069-1071)AGC>AGT p.S357S C1orf129_uc009wvy.2_Silent_p.S164S|C1orf129_uc010plz.1_Silent_p.S357S NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 357 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTCAGGCGAGCGTGGCCCCTC 0.493 RYR2 6262 broad.mit.edu 37 1 237604756 237604756 + Silent SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr1:237604756C>T uc001hyl.1 + 13 1263 c.1143C>T c.(1141-1143)TCC>TCT p.S381S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 381 Cytoplasmic (By similarity).|MIR 5. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACGTGAAATCCGTGAGAATGG 0.348 PLD5 200150 broad.mit.edu 37 1 242383388 242383388 + Missense_Mutation SNP C T T rs140243407 byFrequency TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr1:242383388C>T uc001hzn.1 - 5 764 c.637G>A c.(637-639)GCT>ACT p.A213T PLD5_uc001hzl.3_Missense_Mutation_p.A151T|PLD5_uc001hzm.3_Missense_Mutation_p.A3T|PLD5_uc001hzo.1_Missense_Mutation_p.A121T Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 213 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TTGTTGTAAGCGGTCATGTTC 0.577 OR2B11 127623 broad.mit.edu 37 1 247614785 247614785 + Missense_Mutation SNP G A A rs149375684 byFrequency TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr1:247614785G>A uc010pyx.1 - 1 500 c.500C>T c.(499-501)ACG>ATG p.T167M NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CAATTGCACCGTCAGGACCAC 0.592 ADAMTS14 140766 broad.mit.edu 37 10 72517795 72517795 + Silent SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr10:72517795C>T uc001jrh.2 + 20 3015 c.3015C>T c.(3013-3015)TGC>TGT p.C1005C ADAMTS14_uc001jrg.2_Silent_p.C1008C NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 1005 TSP type-1 4. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 TCGGGCATTGCGAGGGGGATA 0.667 EIF3A 8661 broad.mit.edu 37 10 120801816 120801816 + Silent SNP C G G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr10:120801816C>G uc001ldu.2 - 19 3362 c.3216G>C c.(3214-3216)GGG>GGC p.G1072G EIF3A_uc010qsu.1_Silent_p.G1038G|EIF3A_uc009xzg.1_Silent_p.G111G NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 1072 15.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT]. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CATCATCCAACCCTCGCCTGG 0.637 DHX32 55760 broad.mit.edu 37 10 127527726 127527726 + Missense_Mutation SNP G C C TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr10:127527726G>C uc001ljf.1 - 9 2216 c.1725C>G c.(1723-1725)TTC>TTG p.F575L BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Missense_Mutation_p.F199L|DHX32_uc001ljg.1_Missense_Mutation_p.F575L|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron NM_018180 NP_060650 Q7L7V1 DHX32_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32 575 mitochondrion|nucleus ATP binding|helicase activity breast(2)|ovary(1)|lung(1) 4 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) AACAGTTGAGGAAGTAATCAC 0.453 ELF5 2001 broad.mit.edu 37 11 34515184 34515184 + Missense_Mutation SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr11:34515184C>T uc001mvo.1 - 3 457 c.227G>A c.(226-228)TGC>TAC p.C76Y ELF5_uc001mvp.1_Missense_Mutation_p.C66Y|ELF5_uc009ykd.1_Intron|ELF5_uc001mvq.1_Missense_Mutation_p.C66Y NM_198381 NP_938195 Q9UKW6 ELF5_HUMAN E74-like factor 5 ESE-2a 76 PNT. cell proliferation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) CTGGTCGCAGCAGAACTGGAG 0.527 OREG0020879 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OR5D13 390142 broad.mit.edu 37 11 55541628 55541628 + Missense_Mutation SNP A T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr11:55541628A>T uc010ril.1 + 1 715 c.715A>T c.(715-717)ACT>TCT p.T239S NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 239 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) GCGCCAGAAAACTTTCTCCAC 0.418 OR5L2 26338 broad.mit.edu 37 11 55594866 55594866 + Missense_Mutation SNP C A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr11:55594866C>A uc001nhy.1 + 1 172 c.172C>A c.(172-174)CCC>ACC p.P58T NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) GCTCCACACCCCCGTGTACTT 0.468 HNSCC(27;0.073) OR5W2 390148 broad.mit.edu 37 11 55681471 55681471 + Missense_Mutation SNP C G G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr11:55681471C>G uc010rir.1 - 1 588 c.588G>C c.(586-588)GAG>GAC p.E196D NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ATAACACTAACTCATTGACCT 0.383 OR9G9 504191 broad.mit.edu 37 11 56468275 56468275 + Nonsense_Mutation SNP A T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr11:56468275A>T uc010rjn.1 + 1 412 c.412A>T c.(412-414)AAG>TAG p.K138* NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CATGTCCATAAAGCTGTGTGC 0.493 OR9G9 504191 broad.mit.edu 37 11 56468515 56468515 + Missense_Mutation SNP C A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr11:56468515C>A uc010rjn.1 + 1 652 c.652C>A c.(652-654)CTC>ATC p.L218I NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 218 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGCCTCCTACCTCTTTATCAT 0.532 HTR3B 9177 broad.mit.edu 37 11 113815368 113815368 + Silent SNP C G G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr11:113815368C>G uc001pok.2 + 8 1048 c.981C>G c.(979-981)CTC>CTG p.L327L HTR3B_uc001pol.2_Silent_p.L316L NM_006028 NP_006019 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B 327 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TCAAATTCCTCCATGATGAGC 0.557 MAP3K12 7786 broad.mit.edu 37 12 53875972 53875972 + Missense_Mutation SNP C T T rs149876591 TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr12:53875972C>T uc001sdm.1 - 14 2332 c.2234G>A c.(2233-2235)CGC>CAC p.R745H MAP3K12_uc001sdn.1_Missense_Mutation_p.R778H NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 745 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 TAGTGACTGGCGCATGTTCAG 0.512 OREG0021873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CUX2 23316 broad.mit.edu 37 12 111748125 111748125 + Silent SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr12:111748125C>T uc001tsa.1 + 15 1692 c.1539C>T c.(1537-1539)GGC>GGT p.G513G NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 513 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CCTTCTATGGCGCCAAGCCCC 0.741 TMEM132B 114795 broad.mit.edu 37 12 125834741 125834741 + Missense_Mutation SNP C G G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr12:125834741C>G uc001uhe.1 + 2 804 c.796C>G c.(796-798)CCA>GCA p.P266A NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 266 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GGTGGTCTACCCAACCCAAGA 0.577 TBC1D4 9882 broad.mit.edu 37 13 75933904 75933904 + Splice_Site SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr13:75933904C>T uc001vjl.1 - 3 1517 c.1170_splice c.e3+1 p.Q390_splice TBC1D4_uc010aer.2_Splice_Site_p.Q390_splice|TBC1D4_uc010aes.2_Splice_Site_p.Q390_splice NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) TTGATACATACCTGAGAACAA 0.313 SERPINA1 5265 broad.mit.edu 37 14 94849558 94849558 + Missense_Mutation SNP G A A rs140814100 TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr14:94849558G>A uc001ycx.3 - 2 278 c.17C>T c.(16-18)TCG>TTG p.S6L SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.S6L|SERPINA1_uc010aux.2_Missense_Mutation_p.S6L|SERPINA1_uc001ycy.3_Missense_Mutation_p.S6L|SERPINA1_uc010auy.2_Missense_Mutation_p.S6L|SERPINA1_uc001ycz.3_Missense_Mutation_p.S6L|SERPINA1_uc010auz.2_Missense_Mutation_p.S6L|SERPINA1_uc010ava.2_Missense_Mutation_p.S6L|SERPINA1_uc001ydb.3_Missense_Mutation_p.S6L|SERPINA1_uc010avb.2_Missense_Mutation_p.S6L|SERPINA1_uc001ydc.3_Missense_Mutation_p.S6L|SERPINA1_uc001yda.1_Missense_Mutation_p.S6L NM_000295 NP_000286 P01009 A1AT_HUMAN serine proteinase inhibitor, clade A, member 1 6 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity skin(1) 1 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) GATGCCCCACGAGACAGAAGA 0.612 Alpha-1-Antitrypsin_Deficiency SLC12A1 6557 broad.mit.edu 37 15 48566793 48566793 + Missense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr15:48566793G>A uc001zwn.3 + 20 2644 c.2428G>A c.(2428-2430)GTG>ATG p.V810M SLC12A1_uc010uew.1_Missense_Mutation_p.V616M|SLC12A1_uc001zwq.3_Missense_Mutation_p.V581M|SLC12A1_uc001zwr.3_Missense_Mutation_p.V537M NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 810 Helical; (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TGAGATTGGCGTGGTTATAGT 0.338 ISLR2 57611 broad.mit.edu 37 15 74425374 74425374 + Silent SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr15:74425374C>T uc002axd.2 + 4 1048 c.279C>T c.(277-279)GGC>GGT p.G93G ISLR2_uc002axe.2_Silent_p.G93G|ISLR2_uc010bjg.2_Silent_p.G93G|ISLR2_uc010bjf.2_Silent_p.G93G NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 93 Extracellular (Potential).|LRR 2. positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 TGGAGCCAGGCGCACTGGCCG 0.637 PCSK6 5046 broad.mit.edu 37 15 101968175 101968175 + Missense_Mutation SNP G T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr15:101968175G>T uc002bwy.2 - 7 1059 c.745C>A c.(745-747)CGT>AGT p.R249S PCSK6_uc010bpd.2_Missense_Mutation_p.R119S|PCSK6_uc010bpe.2_Missense_Mutation_p.R249S|PCSK6_uc002bxa.2_Missense_Mutation_p.R249S|PCSK6_uc002bxb.2_Missense_Mutation_p.R249S|PCSK6_uc002bxc.1_Missense_Mutation_p.R249S|PCSK6_uc002bxd.1_Missense_Mutation_p.R249S|PCSK6_uc002bxe.2_Missense_Mutation_p.R249S|PCSK6_uc002bxg.1_Missense_Mutation_p.R249S NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 249 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCCGCACAACGAGTGCCGTGT 0.512 UBN1 29855 broad.mit.edu 37 16 4909917 4909917 + Missense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr16:4909917G>A uc002cyb.2 + 6 958 c.619G>A c.(619-621)GAC>AAC p.D207N UBN1_uc010uxw.1_Missense_Mutation_p.D207N|UBN1_uc002cyc.2_Missense_Mutation_p.D207N NM_001079514 NP_001072982 Q9NPG3 UBN1_HUMAN ubinuclein 1 207 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 GAAAAAAGATGACACTTATGA 0.443 SLC12A3 6559 broad.mit.edu 37 16 56928513 56928513 + Silent SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr16:56928513C>T uc010ccm.2 + 22 2621 c.2592C>T c.(2590-2592)TTC>TTT p.F864F SLC12A3_uc002ekd.3_Silent_p.F873F|SLC12A3_uc010ccn.2_Silent_p.F872F NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 864 Cytoplasmic (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TCCGTGTGTTCGTAGGCGGCC 0.582 CPNE7 27132 broad.mit.edu 37 16 89656340 89656340 + Missense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr16:89656340G>A uc002fnp.2 + 13 1452 c.1322G>A c.(1321-1323)CGG>CAG p.R441Q CPNE7_uc002fnq.2_Missense_Mutation_p.R366Q NM_014427 NP_055242 Q9UBL6 CPNE7_HUMAN copine 7 isoform b 441 VWFA. lipid metabolic process transporter activity 0 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) TTTGGAGCCCGGATCCCTCCC 0.622 TRPV2 51393 broad.mit.edu 37 17 16321183 16321183 + Splice_Site SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr17:16321183G>A uc002gpy.2 + 2 567 c.200_splice c.e2+1 p.S67_splice TRPV2_uc002gpz.2_Splice_Site NM_016113 NP_057197 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, sensory perception integral to plasma membrane|melanosome calcium channel activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CAGGTGCCAGGTGAGACAGCA 0.617 EFCAB5 374786 broad.mit.edu 37 17 28434861 28434861 + Missense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr17:28434861G>A uc002het.2 + 23 4523 c.4331G>A c.(4330-4332)CGA>CAA p.R1444Q EFCAB5_uc010cse.2_Missense_Mutation_p.R1199Q|EFCAB5_uc010csf.2_Missense_Mutation_p.R795Q NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 1444 calcium ion binding ovary(1)|skin(1) 2 GATCATTCCCGAACTGAAGTA 0.308 ERBB2 2064 broad.mit.edu 37 17 37884124 37884124 + Missense_Mutation SNP C A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr17:37884124C>A uc002hso.2 + 27 3833 c.3595C>A c.(3595-3597)CCC>ACC p.P1199T ERBB2_uc002hsm.2_Missense_Mutation_p.P1169T|ERBB2_uc010cwa.2_Missense_Mutation_p.P1184T|ERBB2_uc002hsp.2_Missense_Mutation_p.P1002T|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Missense_Mutation_p.P923T NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 1199 Cytoplasmic (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GTACTTGACACCCCAGGGAGG 0.622 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) AOC3 8639 broad.mit.edu 37 17 41003669 41003669 + Silent SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr17:41003669G>A uc002ibv.2 + 1 469 c.309G>A c.(307-309)CTG>CTA p.L103L NM_003734 NP_003725 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 precursor 103 Extracellular (Potential). amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity central_nervous_system(2)|ovary(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) AGTTGCAGCTGCCTCCCAAGG 0.672 KIF2B 84643 broad.mit.edu 37 17 51901522 51901522 + Frame_Shift_Del DEL C - - TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr17:51901522delC uc002iua.2 + 1 1284 c.1128delC c.(1126-1128)GTCfs p.V376fs uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 376 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 AGCTGCAAGTCCTTGAGGATG 0.468 GALNT1 2589 broad.mit.edu 37 18 33257555 33257555 + Silent SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr18:33257555G>A uc010dmu.2 + 4 368 c.315G>A c.(313-315)GGG>GGA p.G105G GALNT1_uc002kyz.3_Silent_p.G45G|GALNT1_uc002kzb.2_Silent_p.G105G NM_020474 NP_065207 Q10472 GALT1_HUMAN polypeptide N-acetylgalactosaminyltransferase 1 105 Lumenal (Potential). protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 TTGTCTCTAGGTGTAAAACAA 0.383 PARD6G 84552 broad.mit.edu 37 18 77918374 77918374 + Silent SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr18:77918374C>T uc002lny.2 - 3 577 c.411G>A c.(409-411)CCG>CCA p.P137P LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron NM_032510 NP_115899 Q9BYG4 PAR6G_HUMAN PAR-6 gamma protein 137 Pseudo-CRIB.|Interaction with PARD3 and CDC42 (By similarity). cell cycle|cell division|tight junction assembly cytosol|tight junction protein binding 0 all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144) Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23) GGAAGTCGCGCGGGAGGCCGA 0.731 C3 718 broad.mit.edu 37 19 6680227 6680227 + Nonsense_Mutation SNP G T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr19:6680227G>T uc002mfm.2 - 36 4460 c.4398C>A c.(4396-4398)TAC>TAA p.Y1466* C3_uc002mfl.2_Nonsense_Mutation_p.Y202* NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1466 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTACATTAAAGTATTGGTGAA 0.542 EMR1 2015 broad.mit.edu 37 19 6913826 6913826 + Missense_Mutation SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr19:6913826C>T uc002mfw.2 + 11 1323 c.1285C>T c.(1285-1287)CGG>TGG p.R429W EMR1_uc010dvc.2_Missense_Mutation_p.R429W|EMR1_uc010dvb.2_Missense_Mutation_p.R377W|EMR1_uc010xji.1_Missense_Mutation_p.R288W|EMR1_uc010xjj.1_Missense_Mutation_p.R252W NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 429 Ser/Thr-rich.|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) TCCGGCTGTTCGGACGGAATA 0.498 GMIP 51291 broad.mit.edu 37 19 19745707 19745707 + Missense_Mutation SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr19:19745707C>T uc002nnd.2 - 17 1898 c.1781G>A c.(1780-1782)CGT>CAT p.R594H GMIP_uc010xrb.1_Missense_Mutation_p.R568H|GMIP_uc010xrc.1_Missense_Mutation_p.R565H NM_016573 NP_057657 Q9P107 GMIP_HUMAN GEM interacting protein 594 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity ovary(1) 1 CCGCTCCACACGGACCCGGGA 0.592 CD22 933 broad.mit.edu 37 19 35837554 35837554 + Missense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr19:35837554G>A uc010edt.2 + 14 2575 c.2498G>A c.(2497-2499)CGG>CAG p.R833Q CD22_uc010xst.1_Missense_Mutation_p.R661Q|CD22_uc010edu.2_Missense_Mutation_p.R745Q|CD22_uc010edv.2_3'UTR|CD22_uc002nzb.3_Missense_Mutation_p.R656Q|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 833 Cytoplasmic (Potential). cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) GTCGGGGAGCGGCCTCAGGCA 0.547 SIPA1L3 23094 broad.mit.edu 37 19 38633315 38633315 + Silent SNP G T T rs142547881 TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr19:38633315G>T uc002ohk.2 + 12 4007 c.3498G>T c.(3496-3498)TCG>TCT p.S1166S NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 1166 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCCCCGGTTCGGCCACCTACG 0.468 OREG0025445 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) LGALS13 29124 broad.mit.edu 37 19 40097889 40097889 + Silent SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr19:40097889C>T uc002omb.2 + 4 370 c.330C>T c.(328-330)TAC>TAT p.Y110Y NM_013268 NP_037400 Q9UHV8 PP13_HUMAN galectin-13 110 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding ovary(1) 1 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) TACGCATTTACGGCTTTGTCC 0.463 RUVBL2 10856 broad.mit.edu 37 19 49507675 49507675 + Missense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr19:49507675G>A uc002plr.1 + 4 278 c.265G>A c.(265-267)GGC>AGC p.G89S RUVBL2_uc002plq.1_Missense_Mutation_p.G44S|RUVBL2_uc010yab.1_Missense_Mutation_p.G89S|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.G44S|RUVBL2_uc010yac.1_Missense_Mutation_p.G44S NM_006666 NP_006657 Q9Y230 RUVB2_HUMAN RuvB-like 2 89 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) CATCGCCATGGGTAAGAAACC 0.468 ZNF534 147658 broad.mit.edu 37 19 52942496 52942496 + Nonsense_Mutation SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr19:52942496C>T uc002pzk.2 + 4 1883 c.1822C>T c.(1822-1824)CGA>TGA p.R608* ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Nonsense_Mutation_p.R595* NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 608 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACACCTTGCGCGACATAGGAA 0.423 ZSCAN5B 342933 broad.mit.edu 37 19 56701664 56701664 + Silent SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr19:56701664C>T uc010ygh.1 - 4 1020 c.1020G>A c.(1018-1020)CCG>CCA p.P340P NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 340 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GGTGACTGACCGGGCCCGCAG 0.542 RPS5 6193 broad.mit.edu 37 19 58904370 58904370 + Missense_Mutation SNP G T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr19:58904370G>T uc002qsn.2 + 3 208 c.136G>T c.(136-138)GCC>TCC p.A46S RPS5_uc002qso.2_Missense_Mutation_p.A46S NM_001009 NP_001000 P46782 RS5_HUMAN ribosomal protein S5 46 endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit mRNA binding|structural constituent of ribosome 0 all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176) GGAGAAGTATGCCAAGTACCT 0.557 CLIP4 79745 broad.mit.edu 37 2 29386734 29386734 + Silent SNP C G G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr2:29386734C>G uc002rmv.2 + 13 1811 c.1572C>G c.(1570-1572)GGC>GGG p.G524G CLIP4_uc002rmu.2_Silent_p.G524G|CLIP4_uc002rmw.2_RNA NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, 524 CAP-Gly 2. ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) AACCCCATGGCAAGAATGATG 0.388 ACTG2 72 broad.mit.edu 37 2 74128551 74128551 + Missense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr2:74128551G>A uc002sjw.2 + 2 235 c.113G>A c.(112-114)CGC>CAC p.R38H ACTG2_uc010fex.1_Missense_Mutation_p.R38H|ACTG2_uc010fey.2_Missense_Mutation_p.R38H|ACTG2_uc010yrn.1_Missense_Mutation_p.R38H NM_001615 NP_001606 P63267 ACTH_HUMAN actin, gamma 2 propeptide 38 muscle contraction cytoskeleton|cytosol ATP binding 0 ATTGTGGGCCGCCCTCGCCAC 0.637 CNTNAP5 129684 broad.mit.edu 37 2 125547685 125547685 + Missense_Mutation SNP A T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr2:125547685A>T uc002tno.2 + 18 3320 c.2956A>T c.(2956-2958)AAT>TAT p.N986Y CNTNAP5_uc010flu.2_Missense_Mutation_p.N987Y NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 986 EGF-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TGATTGCACCAATTCACCTTA 0.552 CDCA7 83879 broad.mit.edu 37 2 174231123 174231123 + Missense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr2:174231123G>A uc002uid.1 + 7 1042 c.911G>A c.(910-912)CGT>CAT p.R304H CDCA7_uc002uic.1_Missense_Mutation_p.R383H|CDCA7_uc010zej.1_Missense_Mutation_p.R339H|CDCA7_uc010zek.1_Missense_Mutation_p.R262H NM_145810 NP_665809 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 isoform 2 304 Mediates transcriptional activity. regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.116) CTTCGAAACCGTTATGGTGAA 0.557 OSBPL6 114880 broad.mit.edu 37 2 179238622 179238622 + Silent SNP T G G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr2:179238622T>G uc002ulx.2 + 15 1779 c.1401T>G c.(1399-1401)GGT>GGG p.G467G OSBPL6_uc002ulw.2_Silent_p.G400G|OSBPL6_uc002uly.2_Silent_p.G492G|OSBPL6_uc010zfe.1_Silent_p.G436G|OSBPL6_uc002ulz.2_Silent_p.G431G|OSBPL6_uc002uma.2_Silent_p.G471G NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 467 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TGCAGGCTGGTGAGCAAATCC 0.438 IRS1 3667 broad.mit.edu 37 2 227661504 227661504 + Missense_Mutation SNP T C C TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr2:227661504T>C uc002voh.3 - 1 2003 c.1951A>G c.(1951-1953)AGA>GGA p.R651G NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 651 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GGATGGCGTCTGATGGGATTG 0.562 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KIF16B 55614 broad.mit.edu 37 20 16407806 16407806 + Missense_Mutation SNP C A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr20:16407806C>A uc002wpg.1 - 15 1713 c.1555G>T c.(1555-1557)GGG>TGG p.G519W KIF16B_uc010gch.1_Missense_Mutation_p.G519W|KIF16B_uc010gci.1_Missense_Mutation_p.G519W|KIF16B_uc010gcj.1_Missense_Mutation_p.G519W NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 519 FHA. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 CACTGGGACCCACTCAGGGGT 0.428 DIDO1 11083 broad.mit.edu 37 20 61542712 61542712 + Missense_Mutation SNP C T T rs138139875 TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr20:61542712C>T uc002ydr.1 - 3 517 c.253G>A c.(253-255)GGC>AGC p.G85S DIDO1_uc002yds.1_Missense_Mutation_p.G85S|DIDO1_uc002ydt.1_Missense_Mutation_p.G85S|DIDO1_uc002ydu.1_Missense_Mutation_p.G85S|DIDO1_uc002ydv.1_Missense_Mutation_p.G85S|DIDO1_uc002ydw.1_Missense_Mutation_p.G85S|DIDO1_uc002ydx.1_Missense_Mutation_p.G85S|DIDO1_uc011aao.1_Missense_Mutation_p.G85S NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 85 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CTCCTCCTGCCGCGGCGCCGC 0.701 COL6A1 1291 broad.mit.edu 37 21 47412280 47412280 + Missense_Mutation SNP A T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr21:47412280A>T uc002zhu.1 + 18 1342 c.1240A>T c.(1240-1242)AAC>TAC p.N414Y NM_001848 NP_001839 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 precursor 414 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding ovary(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) ATCCCAGGGGAACCCAGGACC 0.637 HIRA 7290 broad.mit.edu 37 22 19318996 19318996 + Silent SNP A G G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr22:19318996A>G uc002zpf.1 - 25 3241 c.3021T>C c.(3019-3021)TGT>TGC p.C1007C HIRA_uc011agx.1_Missense_Mutation_p.S844P|HIRA_uc010grn.1_Silent_p.C800C|HIRA_uc010gro.1_Silent_p.C963C NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 1007 Interaction with histone H4. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) GCTGTTCCTGACACTCGGTGA 0.617 VPREB1 7441 broad.mit.edu 37 22 22599423 22599423 + Missense_Mutation SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr22:22599423C>T uc002zvx.1 + 2 138 c.112C>T c.(112-114)CGC>TGC p.R38C LOC96610_uc011aim.1_Intron NM_007128 NP_009059 P12018 VPREB_HUMAN immunoglobulin iota chain precursor 38 Framework-1.|Ig-like V-type. immune response extracellular region antigen binding|protein binding 0 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) AACCACAATCCGCCTCACCTG 0.632 EOMES 8320 broad.mit.edu 37 3 27761789 27761789 + Silent SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr3:27761789G>A uc003cdx.2 - 2 909 c.909C>T c.(907-909)AAC>AAT p.N303N EOMES_uc003cdy.3_Silent_p.N303N|EOMES_uc010hfn.2_Silent_p.N303N|EOMES_uc011axc.1_Silent_p.N8N NM_005442 NP_005433 O95936 EOMES_HUMAN eomesodermin 303 T-box. CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|breast(1) 4 GTCCGTTTATGTTGAAGCTCA 0.532 ZNF197 10168 broad.mit.edu 37 3 44685661 44685661 + Missense_Mutation SNP C G G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr3:44685661C>G uc003cnm.2 + 6 3245 c.3039C>G c.(3037-3039)TTC>TTG p.F1013L ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron NM_006991 NP_008922 O14709 ZN197_HUMAN zinc finger protein 197 isoform 1 1013 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) TTGAGGAATTCTCTTGGCTAC 0.363 ITIH3 3699 broad.mit.edu 37 3 52840313 52840313 + Silent SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr3:52840313C>T uc003dfv.2 + 18 1983 c.1947C>T c.(1945-1947)GAC>GAT p.D649D ITIH3_uc011bek.1_Intron NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 649 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CACCAGTGGACGGGGATCCCC 0.582 EPHA3 2042 broad.mit.edu 37 3 89468496 89468496 + Missense_Mutation SNP T A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr3:89468496T>A uc003dqy.2 + 11 2255 c.2030T>A c.(2029-2031)TTT>TAT p.F677Y EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 677 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ATGGGACAGTTTGACCACCCC 0.413 TSP Lung(6;0.00050) ADCY5 111 broad.mit.edu 37 3 123166426 123166426 + Missense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr3:123166426G>A uc003egh.1 - 1 967 c.967C>T c.(967-969)CGC>TGC p.R323C NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 323 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) GAGGCGCTGCGTGGCTGCGGC 0.687 TRH 7200 broad.mit.edu 37 3 129694827 129694827 + Silent SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr3:129694827G>A uc003enc.2 + 2 729 c.168G>A c.(166-168)CGG>CGA p.R56R NM_007117 NP_009048 P20396 TRH_HUMAN thyrotropin-releasing hormone 56 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity ovary(1) 1 TCTTCCTCCGGGAAAACATCC 0.672 MBNL1 4154 broad.mit.edu 37 3 152018103 152018103 + Frame_Shift_Del DEL A - - TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr3:152018103delA uc003ezm.2 + 1 910 c.121delA c.(121-123)AAAfs p.K41fs MBNL1_uc003ezh.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezi.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezl.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezp.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezn.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezo.2_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezg.1_RNA|MBNL1_uc003ezk.1_RNA NM_207293 NP_997176 Q9NR56 MBNL1_HUMAN muscleblind-like 1 isoform c 41 C3H1-type 1. embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) ACATCCTTCGAAAAGCTGCCA 0.403 DGKG 1608 broad.mit.edu 37 3 186015248 186015248 + Missense_Mutation SNP T G G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr3:186015248T>G uc003fqa.2 - 5 872 c.335A>C c.(334-336)AAT>ACT p.N112T DGKG_uc003fqb.2_Missense_Mutation_p.N112T|DGKG_uc003fqc.2_Missense_Mutation_p.N112T|DGKG_uc011brx.1_Missense_Mutation_p.N112T NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 112 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TTTGGTGGCATTATCTGCATT 0.458 TLR6 10333 broad.mit.edu 37 4 38829222 38829222 + Missense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr4:38829222G>A uc003gtm.2 - 1 1939 c.1873C>T c.(1873-1875)CGG>TGG p.R625W TLR6_uc010ifg.1_Missense_Mutation_p.R625W NM_006068 NP_006059 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 precursor 625 Cytoplasmic (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity ovary(2) 2 GCCCTGCGCCGAGTCTGGGTC 0.512 UGT2B10 7365 broad.mit.edu 37 4 69696459 69696459 + Silent SNP C G G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr4:69696459C>G uc003hee.2 + 6 1474 c.1449C>G c.(1447-1449)ACC>ACG p.T483T UGT2B10_uc011cam.1_Silent_p.T399T NM_001075 NP_001066 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2B10 isoform 1 483 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 ACAACCTCACCTGGTTCCAGT 0.483 PROL1 58503 broad.mit.edu 37 4 71275346 71275346 + Missense_Mutation SNP G T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr4:71275346G>T uc003hfi.2 + 3 475 c.301G>T c.(301-303)GGT>TGT p.G101C NM_021225 NP_067048 Q99935 PROL1_HUMAN proline rich, lacrimal 1 101 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity large_intestine(1) 1 all_hematologic(202;0.196) ACTCTTTCCGGGTTATCCAAA 0.398 AFM 173 broad.mit.edu 37 4 74365895 74365895 + Missense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr4:74365895G>A uc003hhb.2 + 12 1628 c.1597G>A c.(1597-1599)GCA>ACA p.A533T NM_001133 NP_001124 P43652 AFAM_HUMAN afamin precursor 533 Albumin 3. vitamin transport vitamin E binding ovary(2)|central_nervous_system(1) 3 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TACCTTTCACGCAGACATGTG 0.393 SDHAP3 728609 broad.mit.edu 37 5 1593386 1593386 + Missense_Mutation SNP A C C TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr5:1593386A>C uc010itg.1 - 2 151 c.74T>G c.(73-75)GTG>GGG p.V25G SDHAP3_uc011cme.1_RNA Homo sapiens cDNA clone IMAGE:40127561. 0 CTGGCCATTCACGTGCCTCAG 0.597 ADAMTS16 170690 broad.mit.edu 37 5 5146486 5146486 + Missense_Mutation SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr5:5146486C>T uc003jdl.2 + 3 557 c.419C>T c.(418-420)CCG>CTG p.P140L ADAMTS16_uc003jdk.1_Missense_Mutation_p.P140L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.P140L NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 140 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CAGACTTTACCGCCAGAGGAC 0.522 RICTOR 253260 broad.mit.edu 37 5 38972038 38972038 + Missense_Mutation SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr5:38972038C>T uc003jlp.2 - 11 937 c.913G>A c.(913-915)GGA>AGA p.G305R RICTOR_uc003jlo.2_Missense_Mutation_p.G305R|RICTOR_uc010ivf.2_Missense_Mutation_p.G20R|RICTOR_uc003jlq.1_Missense_Mutation_p.G289R NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 305 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) CCAGAATTTCCAGGTTTACAT 0.299 PIK3R1 5295 broad.mit.edu 37 5 67589138 67589138 + Missense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr5:67589138G>A uc003jva.2 + 10 1686 c.1126G>A c.(1126-1128)GGA>AGA p.G376R PIK3R1_uc003jvb.2_Missense_Mutation_p.G376R|PIK3R1_uc003jvc.2_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.2_Missense_Mutation_p.G106R|PIK3R1_uc003jve.2_Missense_Mutation_p.G55R|PIK3R1_uc011crb.1_Missense_Mutation_p.G46R NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 376 SH2 1. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.G376R(3)|p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CAGGAAAGGGGGAAATAACAA 0.308 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) ATP10B 23120 broad.mit.edu 37 5 160047524 160047524 + Missense_Mutation SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr5:160047524C>T uc003lym.1 - 15 3093 c.2246G>A c.(2245-2247)CGC>CAC p.R749H ATP10B_uc010jit.1_Missense_Mutation_p.R66H|ATP10B_uc003lyn.2_Missense_Mutation_p.R307H NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 749 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGGGGCAGGCGCACAGTCAC 0.612 ALDH5A1 7915 broad.mit.edu 37 6 24502755 24502755 + Missense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr6:24502755G>A uc003neg.2 + 2 387 c.359G>A c.(358-360)AGG>AAG p.R120K ALDH5A1_uc003nef.2_Missense_Mutation_p.R120K NM_001080 NP_001071 P51649 SSDH_HUMAN aldehyde dehydrogenase 5A1 isoform 2 precursor 120 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity 0 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) TTGCAGGAGAGGAGTTCATTA 0.343 C6orf138 442213 broad.mit.edu 37 6 47976593 47976593 + Missense_Mutation SNP C A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr6:47976593C>A uc011dwm.1 - 2 718 c.633G>T c.(631-633)AAG>AAT p.K211N C6orf138_uc011dwn.1_5'UTR|C6orf138_uc003ozf.2_Missense_Mutation_p.K228N NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 228 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 GGATGCTGGTCTTATGAAAGT 0.522 RHAG 6005 broad.mit.edu 37 6 49574864 49574864 + Silent SNP T G G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr6:49574864T>G uc003ozk.3 - 8 1199 c.1137A>C c.(1135-1137)ACA>ACC p.T379T RHAG_uc010jzl.2_Silent_p.T379T|RHAG_uc010jzm.2_Silent_p.R339R NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein 379 Helical; (Potential). carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|skin(1) 2 Lung NSC(77;0.0255) TATGCTGACCTGTCATCAGAC 0.398 GSTA4 2941 broad.mit.edu 37 6 52850344 52850344 + Missense_Mutation SNP T G G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr6:52850344T>G uc003pbc.2 - 3 241 c.177A>C c.(175-177)GAA>GAC p.E59D GSTA4_uc003pbd.2_5'UTR|GSTA4_uc003pbe.2_Intron|GSTA4_uc003pbf.2_Missense_Mutation_p.E59D NM_001512 NP_001503 O15217 GSTA4_HUMAN glutathione S-transferase alpha 4 59 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity|protein homodimerization activity 0 Lung NSC(77;0.103) Glutathione(DB00143) TCCCGTCAATTTCAACCATGG 0.468 AMD1 262 broad.mit.edu 37 6 111210086 111210086 + Missense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr6:111210086G>A uc003puk.1 + 3 546 c.224G>A c.(223-225)AGA>AAA p.R75K AMD1_uc011eay.1_Missense_Mutation_p.R6K|AMD1_uc011eaz.1_Missense_Mutation_p.R46K|AMD1_uc011eba.1_Intron|AMD1_uc003pul.1_Intron NM_001634 NP_001625 P17707 DCAM_HUMAN adenosylmethionine decarboxylase 1 isoform 1 75 spermidine biosynthetic process|spermine biosynthetic process cytosol adenosylmethionine decarboxylase activity upper_aerodigestive_tract(1) 1 all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143) S-Adenosylmethionine(DB00118) GTCTCCAAGAGACGTTTCATT 0.393 CCDC129 223075 broad.mit.edu 37 7 31614192 31614192 + Missense_Mutation SNP T C C TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr7:31614192T>C uc003tcj.1 + 7 1427 c.434T>C c.(433-435)GTG>GCG p.V145A CCDC129_uc011kad.1_Missense_Mutation_p.V155A|CCDC129_uc003tci.1_Missense_Mutation_p.V144A|CCDC129_uc011kae.1_Missense_Mutation_p.V171A|CCDC129_uc003tck.1_Missense_Mutation_p.V53A NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 145 0 ATAGATCCAGTGGAGATTCTC 0.443 NPTX2 4885 broad.mit.edu 37 7 98254242 98254242 + Missense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr7:98254242G>A uc003upl.2 + 3 829 c.652G>A c.(652-654)GCC>ACC p.A218T NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 218 synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) AGGCAATAGCGCCTTTAAGTC 0.582 SRRT 51593 broad.mit.edu 37 7 100481735 100481736 + Frame_Shift_Ins INS - G G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr7:100481735_100481736insG uc003uwy.2 + 7 900_901 c.632_633insG c.(631-633)CAGfs p.Q211fs SRRT_uc010lhl.1_Frame_Shift_Ins_p.Q211fs|SRRT_uc003uxa.2_Frame_Shift_Ins_p.Q211fs|SRRT_uc003uwz.2_Frame_Shift_Ins_p.Q211fs NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 211 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 AAGCGTCGGCAGGAGGCCCGGG 0.569 SLC26A4 5172 broad.mit.edu 37 7 107350617 107350617 + Silent SNP A G G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr7:107350617A>G uc003vep.2 + 19 2432 c.2208A>G c.(2206-2208)CAA>CAG p.Q736Q SLC26A4_uc011kmb.1_Silent_p.Q323Q|SLC26A4_uc011kmc.1_Silent_p.Q297Q|SLC26A4_uc011kmd.1_Silent_p.Q305Q NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 736 Cytoplasmic (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 TGAAATCTCAAGAGGGTCAAG 0.363 Pendred_syndrome SHH 6469 broad.mit.edu 37 7 155599026 155599026 + Missense_Mutation SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr7:155599026C>T uc003wmk.1 - 2 677 c.526G>A c.(526-528)GAG>AAG p.E176K SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Missense_Mutation_p.E89K|SHH_uc003wmj.1_Missense_Mutation_p.E89K NM_000193 NP_000184 Q15465 SHH_HUMAN sonic hedgehog preproprotein 176 Missing (in HPE3). androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|lung(1) 4 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCTTGGACTCGTAGTACACC 0.652 SHH 6469 broad.mit.edu 37 7 155599041 155599041 + Missense_Mutation SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr7:155599041C>T uc003wmk.1 - 2 662 c.511G>A c.(511-513)GAC>AAC p.D171N SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Missense_Mutation_p.D84N|SHH_uc003wmj.1_Missense_Mutation_p.D84N NM_000193 NP_000184 Q15465 SHH_HUMAN sonic hedgehog preproprotein 171 D -> H (in HPE3). androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|lung(1) 4 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TACACCCAGTCGAAGCCGGCC 0.652 DLC1 10395 broad.mit.edu 37 8 12952442 12952442 + Missense_Mutation SNP C T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr8:12952442C>T uc003wwm.2 - 12 3796 c.3352G>A c.(3352-3354)GTC>ATC p.V1118I DLC1_uc003wwk.1_Missense_Mutation_p.V681I|DLC1_uc003wwl.1_Missense_Mutation_p.V715I|DLC1_uc011kxx.1_Missense_Mutation_p.V607I NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 1118 Rho-GAP. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 CGGGACTTGACCCCCGATTTT 0.507 ELP3 55140 broad.mit.edu 37 8 28017799 28017799 + Silent SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr8:28017799G>A uc003xgo.3 + 13 1459 c.1311G>A c.(1309-1311)TTG>TTA p.L437L ELP3_uc003xgn.3_Silent_p.L422L|ELP3_uc011laq.1_Silent_p.L365L|ELP3_uc011lar.1_Silent_p.L345L|ELP3_uc011las.1_Silent_p.L318L|ELP3_uc011lat.1_Silent_p.L318L NM_018091 NP_060561 Q9H9T3 ELP3_HUMAN elongation protein 3 homolog 437 N-acetyltransferase. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding 0 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) AAACATTCTTGTCATACGAAG 0.383 CHD7 55636 broad.mit.edu 37 8 61764695 61764695 + Missense_Mutation SNP A T T TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr8:61764695A>T uc003xue.2 + 29 6260 c.5783A>T c.(5782-5784)CAG>CTG p.Q1928L NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1928 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAAAGGCAACAGATGAGGCAA 0.527 SLCO5A1 81796 broad.mit.edu 37 8 70744582 70744582 + Silent SNP G A A rs145247874 TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr8:70744582G>A uc003xyl.2 - 2 1034 c.327C>T c.(325-327)TCC>TCT p.S109S SLCO5A1_uc010lzb.2_Silent_p.S109S|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.S109S|SLCO5A1_uc010lzc.2_Silent_p.S109S NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 109 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TGGCCAAGGCGGAGGACACCG 0.622 OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RIMS2 9699 broad.mit.edu 37 8 105160868 105160868 + Missense_Mutation SNP G C C TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr8:105160868G>C uc003yls.2 + 23 3421 c.3180G>C c.(3178-3180)ATG>ATC p.M1060I RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.M1049I|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GCAGACAAATGGGCATATCAG 0.433 HNSCC(12;0.0054) SLC24A2 25769 broad.mit.edu 37 9 19786746 19786746 + Nonsense_Mutation SNP A C C TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr9:19786746A>C uc003zoa.1 - 1 181 c.119T>G c.(118-120)TTA>TGA p.L40* SLC24A2_uc003zob.1_Nonsense_Mutation_p.L40* NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 40 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) GAAAAGGCCTAAGACTCGAAT 0.438 TESK1 7016 broad.mit.edu 37 9 35609460 35609460 + Nonsense_Mutation SNP G A A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chr9:35609460G>A uc003zxa.2 + 10 1938 c.1602G>A c.(1600-1602)TGG>TGA p.W534* TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Nonsense_Mutation_p.W374* NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 534 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGGAGCCCTGGAACCGGGCCC 0.692 P2RY4 5030 broad.mit.edu 37 X 69479145 69479145 + Silent SNP G A A rs146718292 byFrequency TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1 623be9ba-8b29-4e70-8378-f89e54c6090a g.chrX:69479145G>A uc004dxz.1 - 1 510 c.330C>T c.(328-330)TTC>TTT p.F110F NM_002565 NP_002556 P51582 P2RY4_HUMAN pyrimidinergic receptor P2Y4 110 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 GAAAGCGGACGAACTTGCAGA 0.542